Neuronal ceroid lipofuscinoses (NCLs) are progressive autosomal recessive disorders belonging to the group of lisosomal-storage
disorders. The main mechanism of these lethal diseases is the excessive accumulation of lipofuscin in the central nervous system,
but other organs are also affected. The prevalence of NCLs ranges from 0.36 to 0.46/100 000. Based on the age of onset, NCLs are
divided into four types: infantile, late-infantile, juvenile and adult neuronal ceroid-lipofuscinosis.
Late-infantile neuronal ceroid lipofuscinosis (LINCL) appears at 2-4 years of age, with myoclonic seizures as the common
inital sign. With the progress of the disease other neurological signs and mental deterioration appear. The diagnosis is based on deficiency
of enzyme tripeptidyl-peptidase 1 (TPP-1) activity in leukocytes and CLN2 gene mutation. There is no causal treatment for
the disease and a lethal outcome is expected after 8-12 years.
Here we present the diagnosis and course of LINCL in two siblings, whose parents are unaffected heterozygotes and are not
related. The first signs of the disease were myoclonic seizures resistant to medication at the age of 1.5 and 2, years respectively. With
the course of the disease, seizures were followed by other neurological symptoms, mental deterioration, impairment of sight and
delayed general development. The older sibling is now 5 years of age, is at an advanced stage of the disease and is in a poor physical
state, paralysed, with occasional myoclonic seizures, not able to talk, has a pronounced tremor, involuntary movements and cerebellar
ataxia. The younger sibling is now 3.5 years of age, he is still mobile, but the first signs of mental and motoric deterioration can
be noted. The predominant signs are frequent myoclonic and atonyc seizures, up to 40 per day, which are resistant to all antiepileptic
medications. The parents, whose third child is unaffected, have been offered psychological and social help.

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Journal PAEDIATRIA CROATICA is the official journal of the Croatian Pediatric Society and Croatian Society of School and University Medicine. The editor is Children's Hospital Zagreb. It is published four times per year by Children's University Hospital Zagreb, Klaićeva 16, HR-10000 Zagreb, Croatia.Practicing pediatricians, pediatric subspecialists, neonatologists, family physicians, and other health care professionals that have children in their care.